view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NRXN1_chr2_49913503_51037132 | 50329611 | GTGTGTGT others(37): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0044a0001c0002t0065 | a0001c0001t0044g0039 a0001c0002t0065g0116 |
2 | 115 | 0.0174 | -44 | c.336 others(65): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 78490172 | GAAAGTGC others(37): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01243.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(14): Show | a0001c0001t0002g0018 a0001c0001t0003g0013 a0001c0001t0008g0008 others(15): Show |
18 | 24 | 0.7500 | -44 | c.758 others(65): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NSUN6_chr10_18540561_18656587 | 18558654 | AGTGGAAA others(37): Show |
A | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0334 | 1 | 344 | 0.0029 | -44 | c.923 others(61): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
NSUN6_chr10_18540561_18656587 | 18563165 | AATGGAAT others(37): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0292 a0001c0001t0005g0293 |
2 | 238 | 0.0084 | -44 | c.923 others(63): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
NTM_chr11_131365615_132341822 | 131401799 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 33 | 0.0303 | -44 | c.82+ others(61): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131789490 | GAGGAAAG others(37): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 79 | 0.0127 | -44 | c.83- others(63): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NUDT3_chr6_34274679_34397669 | 34357343 | CATGGTGC others(37): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0146 | 1 | 268 | 0.0037 | -44 | c.100 others(63): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73299562 | TCATATAT others(37): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0085 | 1 | 320 | 0.0031 | -44 | c.235 others(61): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 6/12 | chr14 | TogoVar | |||||||
NUP153_chr6_17610037_17711925 | 17697732 | CTCTATAA others(37): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0161 | 1 | 216 | 0.0046 | -44 | c.111 others(61): Show |
NUP153 | ENSG00000124789.12 | transcript | ENST00000262077.3 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
NUP210_chr3_13311235_13425322 | 13377699 | ACCACCCA others(37): Show |
A | intron_variant | MODIFIER | HG02004.hp2 HG02071.hp2 NA18998.hp1 |
a0001a0004 | a0001c0001a0004c0036 | a0001c0001t0002a0004c0036t0003 | a0001c0001t0002g0067 a0001c0001t0002g0077 a0004c0036t0003g0175 |
3 | 324 | 0.0093 | -44 | c.104 others(61): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 8/39 | chr3 | TogoVar | |||||||
NUP210_chr3_13311235_13425322 | 13377799 | CAGGCCCC others(37): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0315 | 1 | 324 | 0.0031 | -44 | c.104 others(61): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 8/39 | chr3 | TogoVar | |||||||
NUP54_chr4_76109664_76153397 | 76125276 | TCTCACAG others(37): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03453.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0025 a0002c0002t0003g0026 |
2 | 367 | 0.0054 | -44 | c.105 others(61): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | |||||||
NUP62CL_chrX_107118427_107211433 | 107204749 | TTTAAATA others(37): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(60): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(57): Show |
63 | 264 | 0.2386 | -44 | c.-92 others(61): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | |||||||
NXN_chr17_794310_984776 | 955575 | AGACGCGG others(37): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01243.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0222 others(6): Show |
9 | 239 | 0.0377 | -44 | c.360 others(63): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXPH1_chr7_8428609_8757961 | 8742557 | GAGATATT others(37): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG01109.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0034 others(10): Show |
13 | 208 | 0.0625 | -44 | c.55- others(59): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
OC90_chr8_132019216_132064382 | 132028539 | AAAGAAAG others(37): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01934.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0112 a0001c0002t0002g0050 |
3 | 403 | 0.0074 | -44 | c.113 others(61): Show |
OC90 | ENSG00000253117.5 | transcript | ENST00000254627.4 | protein_coding | 13/13 | chr8 | TogoVar | |||||||
OCA2_chr15_27749875_28104315 | 27770768 | CCCTCCCT others(37): Show |
C | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 105 | 0.0095 | -44 | c.243 others(65): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 23/23 | chr15 | TogoVar | |||||||
OCA2_chr15_27749875_28104315 | 27913884 | AAAGAAAG others(37): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02055.hp2 HG02080.hp2 others(2): Show |
a0001a0003a0011 | a0001c0006a0001c0008a0003c0013others(1): Show | a0001c0006t0001a0001c0008t0001a0003c0013t0001others(1): Show | a0001c0006t0001g0003 a0001c0008t0001g0040 a0001c0008t0001g0068 others(2): Show |
5 | 107 | 0.0467 | -44 | c.207 others(65): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 19/23 | chr15 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135124491 | GGAAGGAA others(37): Show |
G | downstream_gene_variant | MODIFIER | NA19060.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0280 | 1 | 358 | 0.0028 | -44 | c.*43 others(55): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3312 | chr9 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133140999 | ACGACGAC others(37): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01496.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0015 | a0001c0001t0008g0010 a0001c0001t0009g0060 a0001c0001t0015g0043 |
3 | 67 | 0.0448 | -44 | c.62- others(63): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPHN1_chrX_68037344_68438495 | 68416047 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 134 | 0.0075 | -44 | c.154 others(63): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | |||||||
OPLAH_chr8_144046266_144065692 | 144048405 | TCGCGTGC others(37): Show |
T | downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 316 | 0.0032 | -44 | c.*28 others(55): Show |
OPLAH | ENSG00000178814.17 | transcript | ENST00000618853.5 | protein_coding | 2860 | chr8 | TogoVar | |||||||
OR2A12_chr7_144081278_144103953 | 144099021 | CCTTTCTT others(37): Show |
C | downstream_gene_variant | MODIFIER | NA18950.hp2 NA19005.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 3 | 388 | 0.0077 | -44 | c.*29 others(55): Show |
OR2A12 | ENSG00000221858.3 | transcript | ENST00000641592.1 | protein_coding | 69 | chr7 | TogoVar | |||||||
OR2AG1_chr11_6778020_6796558 | 6779192 | ATATATAT others(37): Show |
A | upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0001 | 1 | 445 | 0.0022 | -44 | c.-42 others(55): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3827 | chr11 | TogoVar | |||||||
OR2M3_chr1_248192265_248217925 | 248213423 | ATGTATAT others(37): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0003 | 1 | 402 | 0.0025 | -44 | c.*94 others(55): Show |
OR2M3 | ENSG00000228198.3 | transcript | ENST00000641626.1 | protein_coding | 499 | chr1 | TogoVar | |||||||
OR4F5_chr1_60419_76585 | 66220 | TATATATT others(37): Show |
T | intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0038 | 1 | 214 | 0.0047 | -44 | c.9+6 others(55): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR4K2_chr14_19870142_19888932 | 19872665 | ACACATAT others(37): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0004 | 1 | 252 | 0.0040 | -44 | c.-34 others(55): Show |
OR4K2 | ENSG00000165762.3 | transcript | ENST00000641885.1 | protein_coding | 2476 | chr14 | TogoVar | |||||||
OR4M2B_chr15_21632909_21643992 | 21642105 | ATATATAC others(37): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00738.hp1 others(21): Show |
a0003a0004a0011 | a0003c0003a0004c0004a0011c0016 | a0003c0003t0001a0004c0004t0001a0011c0016t0001 | a0003c0003t0001g0000 a0004c0004t0001g0000 a0011c0016t0001g0000 |
24 | 214 | 0.1122 | -44 | c.*31 others(55): Show |
OR4M2B | ENSG00000182974.3 | transcript | ENST00000332663.3 | protein_coding | 3114 | chr15 | TogoVar | |||||||
OR4M2B_chr15_21632909_21643992 | 21642159 | ACACACAT others(37): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0000 | 1 | 214 | 0.0047 | -44 | c.*32 others(55): Show |
OR4M2B | ENSG00000182974.3 | transcript | ENST00000332663.3 | protein_coding | 3168 | chr15 | TogoVar | |||||||
OR4M2_chr15_22075527_22086610 | 22084716 | CATATATA others(37): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp2 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 2 | 29 | 0.0690 | -44 | c.*31 others(55): Show |
OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 3107 | chr15 | TogoVar | |||||||
OSBPL8_chr12_76346797_76564771 | 76561354 | AGAAACAA others(37): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01256.hp1 HG01978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 others(1): Show |
4 | 236 | 0.0169 | -44 | c.-20 others(55): Show |
OSBPL8 | ENSG00000091039.17 | transcript | ENST00000261183.8 | protein_coding | 1584 | chr12 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75128537 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02056.hp1 HG02886.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0007a0001c0001t0015others(1): Show | a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0045 others(6): Show |
11 | 364 | 0.0302 | -44 | c.132 others(59): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OTOP1_chr4_4183726_4231929 | 4227393 | TGCCGGGG others(37): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0126 | 1 | 426 | 0.0023 | -44 | c.-57 others(53): Show |
OTOP1 | ENSG00000163982.6 | transcript | ENST00000296358.5 | protein_coding | 465 | chr4 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31510859 | TATATGTA others(37): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0018 | a0001c0018t0089 | a0001c0018t0089g0205 | 1 | 239 | 0.0042 | -44 | c.894 others(61): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31510928 | TATATGTA others(37): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG03130.hp1 NA19088.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0002c0003t0003 | a0001c0001t0007g0008 a0001c0001t0007g0204 a0002c0003t0003g0141 |
3 | 244 | 0.0123 | -44 | c.894 others(61): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106405141 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0077 | 1 | 114 | 0.0088 | -44 | c.23+ others(61): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3699877 | GGAAGGAA others(37): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02738.hp2 HG04115.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0012 a0001c0001t0001g0122 a0001c0001t0001g0140 others(5): Show |
8 | 334 | 0.0240 | -44 | c.-39 others(55): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3723 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3699881 | GGAAGGAA others(37): Show |
G | upstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0189 | 1 | 350 | 0.0029 | -44 | c.-39 others(55): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3727 | chr17 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121161125 | CTCTGTCC others(37): Show |
C | intron_variant | MODIFIER | NA18997.hp2 | a0010 | a0010c0010 | a0010c0010t0006 | a0010c0010t0006g0264 | 1 | 364 | 0.0027 | -44 | c.436 others(59): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RY10_chrX_78940391_78968727 | 78965789 | TCTTTCTT others(37): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0063 | 1 | 319 | 0.0031 | -44 | c.*42 others(55): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2063 | chrX | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163269923 | AAAGAAAA others(37): Show |
A | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 129 | 0.0078 | -44 | c.614 others(63): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172374 | ATATATAT others(37): Show |
A | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02602.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0036a0001c0001t0046 | a0001c0001t0005g0009 a0001c0001t0036g0004 a0001c0001t0046g0009 |
3 | 347 | 0.0086 | -44 | c.*46 others(55): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1330 | chr11 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102868132 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG03654.hp2 NA19065.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0001g0092 |
3 | 312 | 0.0096 | -44 | c.442 others(61): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAK4_chr19_39120786_39184404 | 39147062 | TCAATTGA others(37): Show |
T | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 123 | 0.0081 | -44 | c.-96 others(63): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168526491 | ATTGCAAA others(37): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0054 | 1 | 154 | 0.0065 | -44 | c.908 others(63): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALM_chr19_703935_753329 | 727986 | GCGTCGAG others(37): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(132): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0004others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(23): Show | a0001c0002t0001g0011 a0001c0002t0001g0029 a0001c0002t0001g0046 others(123): Show |
135 | 402 | 0.3358 | -44 | c.269 others(59): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALM_chr19_703935_753329 | 727997 | CTGGGTCC others(37): Show |
C | intron_variant | MODIFIER | HG03209.hp1 HG03516.hp1 NA19240.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0010 a0001c0003t0001g0380 |
3 | 401 | 0.0075 | -44 | c.269 others(59): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24607568 | CATATATG others(37): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0129 | a0001c0001t0129g0007 | 1 | 376 | 0.0027 | -44 | c.-2- others(61): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102780753 | CTCTTTCT others(37): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0003 | 1 | 56 | 0.0179 | -44 | c.-37 others(65): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102803142 | AAAGAAAG others(37): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 166 | 0.0060 | -44 | c.-37 others(65): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |